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排序方式: 共有641条查询结果,搜索用时 15 毫秒
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Deborah A Hall Elizabeth Berry-Kravis Randi J Hagerman Paul J Hagerman Cathlin D Rice Maureen A Leehey 《Movement disorders》2006,21(10):1741-1744
There is no established treatment for the neurological features of the recently discovered fragile X-associated tremor/ataxia syndrome (FXTAS). Fifty-six patients with FXTAS completed a questionnaire to determine whether any medications had been effective for neurological symptoms. Of 11 subjects with definite FXTAS, 8 (70%) were on medications for their neurological symptoms, whereas most subjects with possible or probable FXTAS, 31 (70%) of 45 subjects, were not on medications. Although no therapy was uniformly effective for intention tremor, ataxia, Parkinsonism, memory loss, or anxiety, some subjects with intention tremor or Parkinsonism reported improvement with medications frequently used in other movement disorders. Overall, all 22 subjects on medications reported improvement in one or more symptoms. Lack of insight, recall bias, and cognitive impairment may have resulted in an underestimation of the beneficial effect of medical therapy. This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms. 相似文献
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M M Mazzocco R J Hagerman A Cronister-Silverman B F Pennington 《Journal of the American Academy of Child and Adolescent Psychiatry》1992,31(6):1141-1148
The neurocognitive phenotype of fragile X and its relation to cytogenetic expression were examined among 10 fragile X women with > or = 2% expression, 10 0% obligate carriers, and 10 controls. Measures were obtained for intellectual ability, achievement, and verbal, nonverbal, memory, and frontal lobe functions. Results show that no group demonstrated deficits on verbal, nonverbal, or memory measures. In contrast, when controlling for effects of IQ, the expressing fragile X women exhibited (1) deficits on measures of frontal lobe functioning, and (2) enhanced performance on verbal, but not figural, memory. Frontal lobe deficits may account for behavioral and cognitive manifestations of fragile X. 相似文献
6.
Anderson RA; Wallace AM; Kicman AT; Wu FC 《Human reproduction (Oxford, England)》1997,12(8):1657-1662
Administration of supraphysiological doses of testosterone to normal men
causes inhibition of spermatogenesis, but while most become azoospermic,
30-55% maintain a low rate of spermatogenesis. We have investigated whether
there are differences in endogenous androgen production, of testicular and
adrenal origin, which may be related to the degree of suppression of
spermatogenesis. Thirty-three healthy Caucasian men were given weekly i.m.
injections of 200 mg testosterone oenanthate (TE), 18 became azoospermic,
while 15 remained oligozoospermic. Urinary excretion of epitestosterone, a
specific testicular product, was reduced to <10% of pretreatment values,
with no differences between the groups. Similar results were obtained for
other markers of testicular steroidogenesis. Urinary and plasma adrenal
androgens were also reduced during TE treatment: a statistically
significant decrease in both (P < 0.001 and P < 0.05 respectively)
was seen in the azoospermic but not oligozoospermic responders. These
results suggest that testicular steroidogenesis is decreased to <10% by
the administration of supraphysiological doses of exogenous testosterone.
Differences in the degree of ongoing steroidogenesis in the testis do not
appear to account for incomplete suppression of spermatogenesis, thus
differences in androgen metabolism may underlie this heterogeneous
response. A small but significant reduction in secretion of adrenal
androgens was also detectable, the relevance of which is unclear.
相似文献
7.
Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females 总被引:6,自引:0,他引:6
M B Kemper R J Hagerman R S Ahmad R Mariner 《American journal of medical genetics》1986,23(1-2):139-156
We investigated the possibility that fra(X) heterozygotes had a distinct or specific set of mental deficits ("cognitive profile") which would allow for accurate diagnosis. Wechsler Intelligence Scale for Children-Revised (WISC-R) subtest scores obtained on 8 fra(X) school age girls were compared with similar scores obtained on 8 "learning-disabled" non fra(X) girls matched on the basis of Full Scale IQ (FSIQ). The Block Design subtest score was significantly lower in fra(X) girls. In a larger sample of 22 fra(X) females, a characteristic combination of low Arithmetic, Digit Span, and Block Design subtest scores was observed. The mean discrepancy between these 3 subtest scores from the total Verbal or Performance subtest means was significant for the fra(X) group but not for a comparison group of 20 learning-disabled females. Verbal IQ (VIQ) and Performance IQ (PIQ) discrepancy was not significant in fra(X) females. Percent fra(X) positive cells was negatively correlated with VIQ and FSIQ but not with PIQ. 相似文献
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Thomas JA Johnson J Peterson Kraai TL Wilson R Tartaglia N LeRoux J Beischel L McGavran L Hagerman RJ 《American journal of medical genetics. Part A》2003,(2):111-120
The clinical significance of an interstitial duplication of (15)(q11-q13) remains unclear and controversial. The reported phenotypes vary widely and appear to be influenced by the parent of origin of the duplication. Aside from cases of dup(15) reported with autism, the behavioral phenotype of individuals with dup(15) has not been described. We present three families, two with intrachromosomal duplication (15)(q11-q13) ascertained because of developmental delay in a relative. Two families show clear evidence of multigenerational maternal inheritance. The individuals discussed in this paper have minor anomalies and developmental delays. In addition, we describe a behavioral phenotype which often includes attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder. Responses to medications used to manage these behaviors are also described, including a positive response to methylphenidate and a poor response to fluoxetine. The duplication in each presenting individual, and available family members, was investigated utilizing cytogenetic and molecular techniques including high resolution cytogenetics, fluorescence in situ hybridization (FISH), DNA methylation studies, and quantitative fluorescence PCR. High resolution cytogenetic techniques alone missed some cases, demonstrating the need to confirm results with other methods. 相似文献
10.
R S Hikida R S Staron F C Hagerman M Leonardi R Gilders J Falkel T Murray K Appell 《Clinical physiology》1991,11(1):51-59
The significance of the absolute elevations of serum creatine kinase (CK) levels after intense exercise and injuries was studied by measuring CK activities from seven healthy active males during a 2-week period, with a muscle biopsy taken between the first and second week. Most of the subjects (three lifters and two runners) carried on their normal exercise activities, while two lifters stopped training during the 2 weeks. The weight of the biopsy, number of fibres, percentage of fibre types, and cross-sectional areas of the muscle fibres were measured. The CK levels of the non-active subjects and runners remained consistently low during the control week, whereas those of the lifters were usually 500% greater than those of the other two groups, and fluctuated with the intensity of their workouts. A muscle biopsy, having a mean weight of 71.3 mg and containing 1800 fibres, increased the CK values by approximately 100 units litre-1 (U l-1) in most of the subjects. One runner injured his right hamstring muscles 2 days prior to the biopsy, and his CK values rose from 50 to 4400 U l-1. The increases in CK after the biopsy were not related to fibre type, activity, weight of the biopsy, or number or size of fibres removed. These results indicate that: (1) CK values are consistently lower in normal subjects and runners than in lifters. (2) Weight training results in chronic elevations of CK. (3) Compared to a muscle biopsy, muscular injury dramatically increases CK levels. (4) Elevation of serum CK is observed as early as 1 h after an intense weight-lifting session.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献